Literature DB >> 29479082

Integrative omics for health and disease.

Konrad J Karczewski1,2, Michael P Snyder3.   

Abstract

Advances in omics technologies - such as genomics, transcriptomics, proteomics and metabolomics - have begun to enable personalized medicine at an extraordinarily detailed molecular level. Individually, these technologies have contributed medical advances that have begun to enter clinical practice. However, each technology individually cannot capture the entire biological complexity of most human diseases. Integration of multiple technologies has emerged as an approach to provide a more comprehensive view of biology and disease. In this Review, we discuss the potential for combining diverse types of data and the utility of this approach in human health and disease. We provide examples of data integration to understand, diagnose and inform treatment of diseases, including rare and common diseases as well as cancer and transplant biology. Finally, we discuss technical and other challenges to clinical implementation of integrative omics.

Entities:  

Mesh：

Year:  2018        PMID： 29479082      PMCID： PMC5990367          DOI： 10.1038/nrg.2018.4

Source DB:  PubMed          Journal:  Nat Rev Genet        ISSN： 1471-0056            Impact factor:   53.242


  128 in total

Review 1.  Five years of GWAS discovery.

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Journal:  Genet Med       Date:  2007-10       Impact factor: 8.822

3.  Development of a high-resolution NGS-based HLA-typing and analysis pipeline.

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Journal:  Nucleic Acids Res       Date:  2015-03-09       Impact factor: 16.971

4.  Noninvasive monitoring of infection and rejection after lung transplantation.

Authors:  Iwijn De Vlaminck; Lance Martin; Michael Kertesz; Kapil Patel; Mark Kowarsky; Calvin Strehl; Garrett Cohen; Helen Luikart; Norma F Neff; Jennifer Okamoto; Mark R Nicolls; David Cornfield; David Weill; Hannah Valantine; Kiran K Khush; Stephen R Quake
Journal:  Proc Natl Acad Sci U S A       Date:  2015-10-12       Impact factor: 11.205

5.  Annual summary of vital statistics: 2009.

Authors:  Kenneth D Kochanek; Sharon E Kirmeyer; Joyce A Martin; Donna M Strobino; Bernard Guyer
Journal:  Pediatrics       Date:  2012-01-30       Impact factor: 7.124

6.  Genetic risk, coronary heart disease events, and the clinical benefit of statin therapy: an analysis of primary and secondary prevention trials.

Authors:  J L Mega; N O Stitziel; S Kathiresan; M S Sabatine; J G Smith; D I Chasman; M Caulfield; J J Devlin; F Nordio; C Hyde; C P Cannon; F Sacks; N Poulter; P Sever; P M Ridker; E Braunwald; O Melander
Journal:  Lancet       Date:  2015-03-04       Impact factor: 79.321

7.  Patterns and rates of exonic de novo mutations in autism spectrum disorders.

Authors:  Benjamin M Neale; Yan Kou; Li Liu; Avi Ma'ayan; Kaitlin E Samocha; Aniko Sabo; Chiao-Feng Lin; Christine Stevens; Li-San Wang; Vladimir Makarov; Paz Polak; Seungtai Yoon; Jared Maguire; Emily L Crawford; Nicholas G Campbell; Evan T Geller; Otto Valladares; Chad Schafer; Han Liu; Tuo Zhao; Guiqing Cai; Jayon Lihm; Ruth Dannenfelser; Omar Jabado; Zuleyma Peralta; Uma Nagaswamy; Donna Muzny; Jeffrey G Reid; Irene Newsham; Yuanqing Wu; Lora Lewis; Yi Han; Benjamin F Voight; Elaine Lim; Elizabeth Rossin; Andrew Kirby; Jason Flannick; Menachem Fromer; Khalid Shakir; Tim Fennell; Kiran Garimella; Eric Banks; Ryan Poplin; Stacey Gabriel; Mark DePristo; Jack R Wimbish; Braden E Boone; Shawn E Levy; Catalina Betancur; Shamil Sunyaev; Eric Boerwinkle; Joseph D Buxbaum; Edwin H Cook; Bernie Devlin; Richard A Gibbs; Kathryn Roeder; Gerard D Schellenberg; James S Sutcliffe; Mark J Daly
Journal:  Nature       Date:  2012-04-04       Impact factor: 49.962

8.  Fine-mapping inflammatory bowel disease loci to single-variant resolution.

Authors:  Hailiang Huang; Ming Fang; Luke Jostins; Maša Umićević Mirkov; Gabrielle Boucher; Carl A Anderson; Vibeke Andersen; Isabelle Cleynen; Adrian Cortes; François Crins; Mauro D'Amato; Valérie Deffontaine; Julia Dmitrieva; Elisa Docampo; Mahmoud Elansary; Kyle Kai-How Farh; Andre Franke; Ann-Stephan Gori; Philippe Goyette; Jonas Halfvarson; Talin Haritunians; Jo Knight; Ian C Lawrance; Charlie W Lees; Edouard Louis; Rob Mariman; Theo Meuwissen; Myriam Mni; Yukihide Momozawa; Miles Parkes; Sarah L Spain; Emilie Théâtre; Gosia Trynka; Jack Satsangi; Suzanne van Sommeren; Severine Vermeire; Ramnik J Xavier; Rinse K Weersma; Richard H Duerr; Christopher G Mathew; John D Rioux; Dermot P B McGovern; Judy H Cho; Michel Georges; Mark J Daly; Jeffrey C Barrett
Journal:  Nature       Date:  2017-06-28       Impact factor: 49.962

9.  ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

Authors:  Robert C Green; Jonathan S Berg; Wayne W Grody; Sarah S Kalia; Bruce R Korf; Christa L Martin; Amy L McGuire; Robert L Nussbaum; Julianne M O'Daniel; Kelly E Ormond; Heidi L Rehm; Michael S Watson; Marc S Williams; Leslie G Biesecker
Journal:  Genet Med       Date:  2013-06-20       Impact factor: 8.822

10.  Using high-resolution variant frequencies to empower clinical genome interpretation.

Authors:  Nicola Whiffin; Eric Minikel; Roddy Walsh; Anne H O'Donnell-Luria; Konrad Karczewski; Alexander Y Ing; Paul J R Barton; Birgit Funke; Stuart A Cook; Daniel MacArthur; James S Ware
Journal:  Genet Med       Date:  2017-05-18       Impact factor: 8.822
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  182 in total

1.  1H NMR-based metabonomics for infertility diagnosis in men with varicocele.

Authors:  Filipe Tenorio Lira Neto; Ronmilson Alves Marques; Alexandre de Freitas Cavalcanti Filho; Leslie Clifford Noronha Araujo; Salvador Vilar Correia Lima; Licarion Pinto; Ricardo Oliveira Silva
Journal:  J Assist Reprod Genet       Date:  2020-07-26       Impact factor: 3.412

2.  Integrating CNVs into meta-QTL identified GBP4 as positional candidate for adult cattle stature.

Authors:  Xiu-Kai Cao; Yong-Zhen Huang; Yi-Lei Ma; Jie Cheng; Zhen-Xian Qu; Yun Ma; Yue-Yu Bai; Feng Tian; Feng-Peng Lin; Yu-Lin Ma; Hong Chen
Journal:  Funct Integr Genomics       Date:  2018-05-08       Impact factor: 3.410

Review 3.  A systems approach to clinical oncology uses deep phenotyping to deliver personalized care.

Authors:  James T Yurkovich; Qiang Tian; Nathan D Price; Leroy Hood
Journal:  Nat Rev Clin Oncol       Date:  2019-10-16       Impact factor: 66.675

4.  Machine Learning for Integrating Data in Biology and Medicine: Principles, Practice, and Opportunities.

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Journal:  Inf Fusion       Date:  2018-09-21       Impact factor: 12.975

Review 5.  Omics Studies in Hemoglobinopathies.

Authors:  Eleni Katsantoni
Journal:  Mol Diagn Ther       Date:  2019-04       Impact factor: 4.074

6.  Redox Systems Biology of Nutrition and Oxidative Stress.

Authors:  Kristine K Dennis; Young-Mi Go; Dean P Jones
Journal:  J Nutr       Date:  2019-04-01       Impact factor: 4.798

7.  Understanding mixed environmental exposures using metabolomics via a hierarchical community network model in a cohort of California women in 1960's.

Authors:  Shuzhao Li; Piera Cirillo; Xin Hu; ViLinh Tran; Nickilou Krigbaum; Shaojun Yu; Dean P Jones; Barbara Cohn
Journal:  Reprod Toxicol       Date:  2019-07-09       Impact factor: 3.143

8.  Enabling semantic queries across federated bioinformatics databases.

Authors:  Ana Claudia Sima; Tarcisio Mendes de Farias; Erich Zbinden; Maria Anisimova; Manuel Gil; Heinz Stockinger; Kurt Stockinger; Marc Robinson-Rechavi; Christophe Dessimoz
Journal:  Database (Oxford)       Date:  2019-01-01       Impact factor: 3.451

9.  Pheno-RNA, a method to associate genes with a specific phenotype, identifies genes linked to cellular transformation.

Authors:  Rabih Darwiche; Kevin Struhl
Journal:  Proc Natl Acad Sci U S A       Date:  2020-11-03       Impact factor: 11.205

10.  Integrative analysis of somatic mutations and differential expression profiles in glioblastoma based on aging acceleration.

Authors:  Huize Wang; Shiyan Li; Hongxin Liu; Shiyu Bian; Wanjiang Huang; Chengzhong Xing; Yin Wang
Journal:  Int J Clin Exp Pathol       Date:  2021-05-15
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